Variant position: 208 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 499 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human NASSKYEITTIHNLFRKLTH RLFRRNFGYTLRSVNDLYIQK
Mouse NASSKYEVTTIHNLFRKLTH RLFRRNFGYTLRSVNGLYIQK
Rat NASSKYEVTTIHNLFRKLTH RLFRRNFGYTLQSVNDLYIQK
Rabbit NASSKYEILTIHNLFRKLTH RLFRRNFGYTLRSVNDLYVQK
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
20 – 499 Heparin cofactor 2
192 – 212 Glycosaminoglycan-binding site
188 – 188 N-linked (GlcNAc...)
204 – 204 K -> M. Reduced heparin- and no dermatan sulfate-activated inhibition.
204 – 204 K -> N. Reduced heparin- and no dermatan sulfate-activated inhibition.
204 – 204 K -> T. Reduced heparin- and no dermatan sulfate-activated inhibition.
195 – 210
Heparin cofactor IIOslo. Mutation of Arg-189 to His decreases the affinity for dermatan sulfate.
Blinder M.A.; Andersson T.R.; Abildgaard U.; Tollefsen D.M.;
J. Biol. Chem. 264:5128-5133(1989)
Cited for: VARIANT THPH10 HIS-208;
Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANT THPH10 HIS-208; VARIANTS THR-7 AND MET-442;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.